Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Congenital erythropoeitic porphyria
Introduction
Synonyms and keywords: Congenital erythropoeitic porphyria; Gunther’s disease.
Overview
Overview
Gunther disease, is a congenital form of erythropoietic porphyria. It is a rare, autosomal recessive[1] metabolic disorder of heme caused by deficiency of the enzyme uroporphyrinogen cosynthetase.
Genetics
Genetics
Gunther disease is caused by mutations in the gene that encodes the enzyme uroporphyrinogen III synthase (UROS), located at human chromosome 10q25.2-q26.3.[3] The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
References
References
- ↑ Deybach JC, De Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y (1990). “Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther’s disease)”. Blood. 75 (9): 1763–5. ISSN 0006-4971. PMID 2331520.
- ↑ Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE (2007). “Hans Gunther and his disease”. Photodermatol Photoimmunol Photomed. 23 (6): 261–3. doi:10.1111/j.1600-0781.2007.00323.x. PMID 17986065.
- ↑ Online Mendelian Inheritance in Man (OMIM) 606938
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]